ClinVar Miner

List of variants in gene FIG4 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP
GRCh37/hg19 6q21(chr6:110050042-110117170)x3
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
GRCh37/hg19 6q21(chr6:110141405-110220627)x1
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.102G>A (p.Thr34=) rs145711919
NM_014845.5(FIG4):c.1051G>C (p.Asp351His) rs879253941
NM_014845.5(FIG4):c.1091T>A (p.Met364Lys) rs772677048
NM_014845.5(FIG4):c.1138-175G>T rs80101079
NM_014845.5(FIG4):c.1138-45A>T rs201459736
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.5(FIG4):c.1272-238C>T rs7756284
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1350C>G (p.Arg450=) rs763035100
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1388+5G>T rs200730266
NM_014845.5(FIG4):c.1405G>A (p.Gly469Arg) rs201742496
NM_014845.5(FIG4):c.1434+181G>T rs13196280
NM_014845.5(FIG4):c.1434+238T>C rs6912209
NM_014845.5(FIG4):c.1525C>T (p.Leu509=) rs146488614
NM_014845.5(FIG4):c.1583+3A>G rs866431185
NM_014845.5(FIG4):c.1584-317T>C rs17612996
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.165+100A>T rs6924436
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1703A>G (p.Lys568Arg) rs1064797016
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1923G>A (p.Lys641=) rs140078026
NM_014845.5(FIG4):c.1948+46C>A rs9320315
NM_014845.5(FIG4):c.1948+5G>T rs756884619
NM_014845.5(FIG4):c.1949-308G>A rs9386844
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2035C>T (p.Arg679Trp) rs188910818
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2097-243A>C rs9386845
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2180+63G>T rs9384723
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) rs774799167
NM_014845.5(FIG4):c.2360G>A (p.Ser787Asn) rs377017892
NM_014845.5(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982
NM_014845.5(FIG4):c.243A>G (p.Lys81=) rs200257799
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2460-252A>G rs72944977
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2546+17A>C rs1050332219
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.263G>A (p.Arg88Gln) rs879254310
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.289+331G>A rs7771150
NM_014845.5(FIG4):c.290-147C>T rs6921615
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.309A>C (p.Glu103Asp) rs151070087
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.447-119T>G rs11153215
NM_014845.5(FIG4):c.506A>C (p.Tyr169Ser) rs770278572
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe) rs141116831
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.548G>A (p.Arg183Gln) rs781588508
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.719G>C (p.Ser240Thr) rs772586786
NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) rs138376077
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.762C>T (p.Phe254=) rs201013726
NM_014845.5(FIG4):c.775+298G>A rs12201444
NM_014845.5(FIG4):c.776-270C>T rs112727135
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.863G>T (p.Gly288Val) rs1057519188
NM_014845.5(FIG4):c.876+126T>G rs1322124
NM_014845.6(FIG4):c.1137+10G>A rs1583671962
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.1272-8C>T rs1583697467
NM_014845.6(FIG4):c.1331del (p.Thr444fs) rs1583697607
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu) rs1583699947
NM_014845.6(FIG4):c.1443C>T (p.Ile481=) rs1583701662
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508
NM_014845.6(FIG4):c.1602T>C (p.Tyr534=) rs1583703907
NM_014845.6(FIG4):c.1836A>G (p.Thr612=) rs1267198458
NM_014845.6(FIG4):c.1932A>G (p.Pro644=) rs767919652
NM_014845.6(FIG4):c.207C>T (p.Arg69=) rs1583643073
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2145G>A (p.Val715=) rs1583738268
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) rs1583643080
NM_014845.6(FIG4):c.2235C>T (p.Ala745=) rs144830399
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729
NM_014845.6(FIG4):c.2459+7T>C rs575271308
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2640C>T (p.Ile880=) rs769813337
NM_014845.6(FIG4):c.2685C>T (p.Ser895=) rs764459799
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014845.6(FIG4):c.516C>T (p.Ser172=) rs759246119
NM_014845.6(FIG4):c.54T>C (p.Tyr18=) rs746307320
NM_014845.6(FIG4):c.66+8C>T rs768404941
NM_014845.6(FIG4):c.717A>G (p.Lys239=) rs750904354
NM_014845.6(FIG4):c.718del (p.Ser240fs)
NM_014845.6(FIG4):c.811C>T (p.Leu271=) rs1360869637
NM_014845.6(FIG4):c.882T>C (p.Asp294=) rs776821372
NM_014845.6(FIG4):c.885T>A (p.Val295=) rs551491783

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